Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pik3catm1Jjz mutation
(1 available);
any
Pik3ca mutation
(62 available)
Tg(OPN1LW-cre)4Yzl mutation
(1 available)
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vision/eye
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• cone cell loss in 3 month old mice
• however, overall morphology and structural integrity of retinas is normal at 3 months of age
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• photopic ERG b-wave recordings of cone photoreceptors are lower at 3 months of age
• however, scotopic ERG recordings of rod photoreceptors are normal at 3 months of age
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nervous system
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• cone cell loss in 3 month old mice
• however, overall morphology and structural integrity of retinas is normal at 3 months of age
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nampttm1Oleo mutation
(1 available);
any
Nampt mutation
(91 available)
Tg(OPN1LW-cre)4Yzl mutation
(1 available)
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vision/eye
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• at 3 weeks with massive atrophy of the neurosensory retina and vascular attenuation with pigment mottling
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• photopic b-wave amplitude
• reduced visual acuity
• however, nicotinamide mononucleotide treatment rescued function
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• mild decline inn scotopic a- and b-wave amplitudes
• however, nicotinamide mononucleotide treatment rescued function
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nervous system
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• at 3 weeks with massive atrophy of the neurosensory retina and vascular attenuation with pigment mottling
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pigmentation
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pik3r1tm1Lca mutation
(1 available);
any
Pik3r1 mutation
(55 available)
Tg(OPN1LW-cre)4Yzl mutation
(1 available)
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vision/eye
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• progressive disorganization of synaptic ultrastructure is seen in the terminals of surviving cones at 6 and 12 months of age but not at 1 month
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• retinas show patchy regions devoid of cones by 6 months and cone photoreceptor loss is further exacerbated by 12 months of age
• the inferior meridian region of the retinas shows greater cone loss than the superior region at 6 months but by 12 months, similar loss of cones is seen in both regions
• however, the overall morphology and structural integrity of the retina are similar to wild-type mice at 1, 6, and 12 months of age
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• scotopic b-wave amplitudes are lower at 6 and 12 months of age compared with control floxed mice but are not different from control cre-only expressing mice
• photopic ERG b-wave amplitudes are decreased at 6 months, but not 1 month of age, and decrease progressively to 12 months
• however, scotopic ERG recordings of rod photoreceptors (scotopic a-wave) are normal at 1, 6, and 12 months of age
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nervous system
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• progressive disorganization of synaptic ultrastructure is seen in the terminals of surviving cones at 6 and 12 months of age but not at 1 month
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• retinas show patchy regions devoid of cones by 6 months and cone photoreceptor loss is further exacerbated by 12 months of age
• the inferior meridian region of the retinas shows greater cone loss than the superior region at 6 months but by 12 months, similar loss of cones is seen in both regions
• however, the overall morphology and structural integrity of the retina are similar to wild-type mice at 1, 6, and 12 months of age
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• progressive disorganization of synaptic ultrastructure is seen in the terminals of surviving cones at 6 and 12 months of age but not at 1 month
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• cone terminals in the retina ribbon synaptic complexes are reduced, flat contacts are sometimes located adjacent to synaptic ribbons, and interactions with postsynaptic processes appear disorganized
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ift20tm1.1Gjp mutation
(1 available);
any
Ift20 mutation
(20 available)
Ift20tm1.2Gjp mutation
(0 available);
any
Ift20 mutation
(20 available)
Tg(OPN1LW-cre)4Yzl mutation
(1 available)
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nervous system
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• mice show mislocalization of opsin in the inner segment and at the synapse such that opsin is abundant in the inner segments at P10, with dense accumulations at the basal body of the connecting cilium, suggesting a defect in cone opsin active transport through the cilium
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• cone outer segments show reduced amounts of opsin at P10
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• the number of outer segments declines rapidly after P10 such that only about 10% as many as in controls are seen at P28 and none are seen at later time points
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• rapid degeneration after P10
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vision/eye
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• mice show mislocalization of opsin in the inner segment and at the synapse such that opsin is abundant in the inner segments at P10, with dense accumulations at the basal body of the connecting cilium, suggesting a defect in cone opsin active transport through the cilium
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• cone outer segments show reduced amounts of opsin at P10
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• the number of outer segments declines rapidly after P10 such that only about 10% as many as in controls are seen at P28 and none are seen at later time points
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• rapid degeneration after P10
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(OPN1LW-cre)4Yzl mutation
(1 available)
Tmem30atm1.1Xjz mutation
(0 available);
any
Tmem30a mutation
(29 available)
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nervous system
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• significant reduction in M-opsin expression
• mislocalization of M-opsin to inner segment (IS) and cell bodies at age P16
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• normal cone cell number at age P16
• no cone cells in outer segment at age P42
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• normal cone cell number at age P16
• no cone cells in outer segment at age P42
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vision/eye
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• significant reduction in M-opsin expression
• mislocalization of M-opsin to inner segment (IS) and cell bodies at age P16
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• normal cone cell number at age P16
• no cone cells in outer segment at age P42
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• normal cone cell number at age P16
• no cone cells in outer segment at age P42
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• no a- or b-wave with photopic ERG
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emc1em1Xjz mutation
(0 available);
any
Emc1 mutation
(55 available)
Tg(OPN1LW-cre)4Yzl mutation
(1 available)
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vision/eye
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• at P25 cones appear curled with disordered arrangement
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• only a small residual number of cones are present at 2 months of age
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nervous system
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• at P25 cones appear curled with disordered arrangement
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• only a small residual number of cones are present at 2 months of age
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Elovl4tm3Kzh mutation
(0 available);
any
Elovl4 mutation
(35 available)
Tg(OPN1LW-cre)4Yzl mutation
(1 available)
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vision/eye
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• normal ERG and normal visual performance up to 6.5 months
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homeostasis/metabolism
Analysis Tools